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Browse by Current Cardiff authors

Number of items: 5.

Kamath, Arveen, Linden, Stefanie C. ORCID:, Evans, Ffion M., Hall, Jeremy ORCID:, Jose, Sian F., Spillane, Sally A., Hardie, Alan D. R., Morgan, Sian M. and Pilz, Daniela T. 2018. Chromosome 17q12 duplications: Further delineation of the range of psychiatric and clinical phenotypes. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 177 (5) , pp. 520-528. 10.1002/ajmg.b.32643

Thomas, Laura E. ORCID:, Hurley, Joanna J., Meuser, Elena, Jose, Sian, Ashelford, Kevin E. ORCID:, Mort, Matthew, Idziaszczyk, Shelley, Maynard, Julie, Leon Brito, Helena, Harry, Manon, Walters, Angharad, Raja, Meera, Walton, Sarah-Jane, Dolwani, Sunil ORCID:, Williams, Geraint T. ORCID:, Morgan, Meleri, Moorghen, Morgan, Clark, Susan K. and Sampson, Julian R. ORCID: 2017. Burden and profile of somatic mutation in duodenal adenomas from patients with familial adenomatous- and MUTYH-associated polyposis. Clinical Cancer Research 23 (21) , pp. 6721-6732. 10.1158/1078-0432.CCR-17-1269

Iacovazzo, Donato, Caswell, Richard, Bunce, Benjamin, Jose, Sian, Yuan, Bo, Hernández-Ramírez, Laura C., Kapur, Sonal, Caimari, Francisca, Evanson, Jane, Ferraù, Francesco, Dang, Mary N., Gabrovska, Plamena, Larkin, Sarah J., Ansorge, Olaf, Rodd, Celia, Vance, Mary L., Ramírez-Renteria, Claudia, Mercado, Moisés, Goldstone, Anthony P., Buchfelder, Michael, Burren, Christine P., Gurlek, Alper, Dutta, Pinaki, Choong, Catherine S., Cheetham, Timothy, Trivellin, Giampaolo, Stratakis, Constantine A., Lopes, Maria-Beatriz, Grossman, Ashley B., Trouillas, Jacqueline, Lupski, James R., Ellard, Sian, Sampson, Julian Roy ORCID:, Roncaroli, Federico and Korbonits, Márta 2016. Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study. Acta Neuropathologica Communications 4 , 56. 10.1186/s40478-016-0328-1

Rodd, Celia, Millette, Maude, Iacovazzo, Donato, Stiles, Craig E., Barry, Sayka, Evanson, Jane, Albrecht, Steffen, Caswell, Richard, Bunce, Benjamin, Jose, Sian, Trouillas, Jacqueline, Roncaroli, Federico, Sampson, Julian ORCID:, Ellard, Sian and Korbonits, Márta 2016. Somatic GPR101 duplication causing X-Linked acrogigantism (XLAG)- diagnosis and management. Journal of Clinical Endocrinology & Metabolism 101 (5) , pp. 1927-1930. 10.1210/jc.2015-4366

Short, Emma, Thomas, Laura E. ORCID:, Hurley, Joanna, Jose, Sian and Sampson, Julian Roy ORCID: 2015. Inherited predisposition to colorectal cancer: towards a more complete picture. Journal of Medical Genetics 52 , pp. 791-796. 10.1136/jmedgenet-2015-103298

This list was generated on Fri Jun 9 04:32:23 2023 BST.